rs7751505

Variant names:

• chr6-31392478-A-C
• rs7751505

Your query was ambiguous. Multiple possible variants found:

• chr6-31392478-A-C
• chr6-31392478-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.311 in 151,592 control chromosomes in the GnomAD database, including 7,965 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.31 (7965 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0360

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.36 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.311 AC: 47075 AN: 151476 Hom.: 7951 Cov.: 32

Gnomad AFR AF: 0.365

Gnomad AMI AF: 0.470

Gnomad AMR AF: 0.357

Gnomad ASJ AF: 0.560

Gnomad EAS AF: 0.314

Gnomad SAS AF: 0.305

Gnomad FIN AF: 0.335

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.249

Gnomad OTH AF: 0.320

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.311 AC: 47133 AN: 151592 Hom.: 7965 Cov.: 32 AF XY: 0.316 AC XY: 23420 AN XY: 74098

Gnomad4 AFR AF: 0.365

Gnomad4 AMR AF: 0.358

Gnomad4 ASJ AF: 0.560

Gnomad4 EAS AF: 0.314

Gnomad4 SAS AF: 0.304

Gnomad4 FIN AF: 0.335

Gnomad4 NFE AF: 0.249

Gnomad4 OTH AF: 0.325

Alfa AF: 0.270 Hom.: 7450

Bravo AF: 0.315

Asia WGS AF: 0.316 AC: 1100 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.20
DANN	Benign	0.25

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs7751505; hg19: chr6-31360255;